Genetic analysis and clinical assessment of four patients with Glycogen Storage Disease Type IIIa in China.

ABSTRACT:

Background

Glycogen Storage Disease Type III (GSD III) is a rare autosomal recessive metabolic disorder caused by AGL gene mutation. There is significant heterogeneity between the clinical manifestations and the gene mutation of AGL among different ethnic groups. However, GSD III is rarely reported in Chinese population.

Case presentation

In this study, we aimed to study the genetic and clinical characteristics of four patients with GSD IIIa from China, especially the neurological manifestations. Meanwhile, we conducted a literature review of GSD IIIa cases reported in Chinese population to investigate the relationship between genotype and phenotype.

Conclusions

Three different AGL gene mutations were identified in our patients: c.206dupA, c.1735 + 1G > T and c.2590 C

SUBMITTER: Zhang Y 

PROVIDER: S-EPMC5883582 | biostudies-literature | 2018 Apr

REPOSITORIES: biostudies-literature